A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis

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KHORRAMI MEHDI; Mahdavi Manijeh; FAKHR Fatemeh; KHEIROLLAHI MAJID

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Journal Paper

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Journal: Iranian Journal of Child Neurology Year:2019 | Volume:13 | Issue:4 Page(s): 173-183

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Title

A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis

Author(s)

KHORRAMI MEHDI | Mahdavi Manijeh | FAKHR Fatemeh | KHEIROLLAHI MAJID | Issue Writer Certificate

Keywords

Sanfilippo syndrome type B

Mucopolysaccharidosis IIIB

Targeted exome sequencing

NAGLU gene

Abstract

Objectives Mucopolysaccharidosis IIIB (MPS IIIB) (Sanfilippo syndrome type B; OMIM 252920) is an autosomal recessive metabolic disorder caused by mutations in the NAGLU gene which encode lysosomal enzyme N-acetyl-glucosaminidase, involved in degradation of complex polysaccharide, heparan sulfate. The disease is characterized by progressive cognitive decline and behavioral difficulties and motor function retardation. Materials & Methods In this study, Targeted exome sequencing was used in consanguineous parent (mother) of a deceased child with clinical diagnosis of mucopolysaccharidosis. Sanger sequencing was performed to confirm the candidate pathogenic variants in extended family members and segregation analysis. In silico pathogenicity assessment of detected variant using multiple computational predictive tools were performed. Computational docking using the Molegro Virtual Docker (MVD) 6. 0. 1 software applied to evaluate affinity binding of altered protein for its ligand, N-Acetyl-D-Glucosamine. Moreover, with I-TASSER software functional alterations between wild and mutant proteins evaluated. Results We identiﬁ ed a novel heterozygote deletion variant (c. 1294-1304 del CTCTTCCCCAA, p. 432LeufsX25) in the NAGLU gene. The variant was classified as pathogenic based on the American College of Medical Genetics and Genomics guideline. Computational docking with the Molegro Virtual Docker (MVD) 6. 0. 1 software confirmed different affinity binding of truncated protein for its ligand. Moreover, I-TASSER software revealed structural and functional alterations of mutant proteins. Conclusion This study expands the spectrum of NAGLU pathogenic variants and confirms the utility of targeted NGS sequencing in genetic diagnosis and also the utility and power of additional family information.

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APA: Copy

KHORRAMI, MEHDI, Mahdavi, Manijeh, FAKHR, Fatemeh, & KHEIROLLAHI, MAJID. (2019). A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 13(4), 173-183. SID. https://sid.ir/paper/742047/en

Vancouver: Copy

KHORRAMI MEHDI, Mahdavi Manijeh, FAKHR Fatemeh, KHEIROLLAHI MAJID. A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2019;13(4):173-183. Available from: https://sid.ir/paper/742047/en

IEEE: Copy

MEHDI KHORRAMI, Manijeh Mahdavi, Fatemeh FAKHR, and MAJID KHEIROLLAHI, “A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis,” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 13, no. 4, pp. 173–183, 2019, [Online]. Available: https://sid.ir/paper/742047/en

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